HsaINT0106315 @ hg19
Intron Retention
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17166786-17169145:-
Coord C1 exon
chr8:17169020-17169145
Coord A exon
chr8:17166836-17169019
Coord C2 exon
chr8:17166786-17166835
Length
2184 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
3' ss Seq
TTGTATTCTTTCTTGTGTAGGTA
3' ss Score
10.57
Exon sequences
Seq C1 exon
GCAGTGTCAGAGGAAGGGGCAAGTGTGCTTGTTCACTGTTCTGATGGCTGGGACAGGACCGCTCAGGTGTGCTCGGTGGCAAGCCTGCTGCTGGACCCTCACTACCGGACTCTGAAGGGCTTCATG
Seq A exon
GTGAGTGTGGCCACTGGGCGATTCCCACAGGCGGTGCCTTGACCAGGAATGGACCCCTGTTTTTACAACTACTGGCAACTGCTGTTTTCTTGCCAGCATTATTTTTCTTTTAGTAGCTCAGCAAGATTAAAGGGGAAGAGATCAAGATTAATTTAATCAGCAAGATTAAAGGGGAAGGCTTGGAATAAAGAGATGAATTTCTGGGATATTGAAACCATTTCAAGTCAATGCTACTGAATGAGTTTTGGGGCAAATATAAAATATATTTGGTAGTTTGTAAGCCAATTTTATATATCATTTGCTCATAAGTATTTCAAGTTTGAGGTAACATGAATATGTAACAGAAGACTTTTTAGAAAAAATATTTTGGGAAGAAATTTTCTATATTGTGTATGCCAAAAGTCCTTGGTAGGAAAAACTGTTTTCACTTCCAGGGTATGTTTTTTAAGTAGTCCTTCACACCCCTGGATGAGAATGCTGAAAATTTCACAGCCTTTTGTTGTTGTTCTTTGCTGAAATGACGAGTATATCCTGTAGAGTTTGAGCTTTTTAGGTGGGCATCAAATGTAACGTTGCTTTCAACTACAGAGTATTGTATATAGTTGCCTGGGATGGTGAAGTTTTCACTAATCTGGTATAAGTTCCTTAAAATGAATTCACCTCTTAACCATGATTTGGTAGACAGTGCTTCAGTGAATCATGAATCCGTGCTACACAAGATGCTGACAAAGGAGTCCTAATGGAATATCTTTACTGCTGGGTCTCCATTATTGAGTAATATCAGCAACACCCTCGGACAAGAGCGAAGAGGCAGGCTCCCTCTCTGGGATGTTTTTCTTTTTTTGGAAGTGTCTGAGAACTTCCAATTACCTGTGATAGCATTGACACCTCAAAGTGATACCCTTGCTTCAGATCCCTGCTGGACTGAAGTCAGGAGGGCTGGATTGCTTCATTTGCATTTGGAGAGTAAAGAGGTTGCCAGTCACACACTGCCCTTAGGCTCTTCTCCTGCACACATGCGTTTCCATCATCAACTTGTTCTCATTGTGCCCCATTAAACTTACAACCCAAAGAAAATGTCTCGAGTTGTCAAGAACAGACTTCCACTAGTTCATATTTCTTTGTAAGGGGAAATCTCTGGCCACTTTAAAGCATTGGGGATATTGATGAGACTATCCATATTACTTGACTGAACACTTTTTAAAATCCAGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTTTGGGAGGTTAAGGAGGGAGGCTTGCTGGAGCCCCAGAGTTTGAGACCAGCCTGGGCAACATGGCGAGACCTCGTCTCTATAAAAAATTAAAAAAAAATTAGCCAGGTGTGGTGGAGCCCACCTGTGGTCCCAGCTACTTGGGCTGAGGTGGGAGGATCGCTCGAGCTCAGGAGGTCAAGGGTGTAGTGAGCCATGATCTCATCACTGCACTCCAGCCTACGTGGCTGAGTGAGATCCTGTCTCAAAAATAAATTTTAAAATATAAAACAATATAAAATACAAAACCAAAATAAATACTTAAAAATAATAATCTGGACTGCCTCAGACTTAGAAATTCATGTTAACCCTAATTTCAAAGCAGGGCTGAAGCTTTGAATATACCCCAAACACCATCATTTTAGAATTCTTATAATGTGTAGAAAAGATCACTGAAAAACTTCCCAGTTGTTTTTGTAAAGAGGTTGGTAATTTACATTACACTGAGAGGCAGCATCACACATTGGTTGAGATAGGGTTTGAAGTGGAGAGACCTGGGCTGTGAAGTGGGGTCTCCTTCCTAGTAGCATGATCTTGGGCGAATATGAAACCTCTTTCCTTCGGTTTCCCCTTCTAAAAGAGTGAGAATACCTATCCTACAGTTAGAGATCATACGTAAAGCAATGTGAACAGTGCCTGGCACATAGGAAGCATTCAGCGGGTGGGGTTCCTGCATTTTTATACATCCATTTCCACTCACTGTTCCCATGGATGACCTTCAACTTTGCCTTTGCCATGTGCATCTCTATATGGGTGGATAATGCCTGTTCATGCATTTGCAGGTTACTCGAGGATGGGGACTTCTGCAAGTGCCTCTGAATTCCTCAACATTATTGGTTGTGTGGTCTCTTATTTTTCGTTTGCTTCTCTCCAAGATATTTGTATTCTTTCTTGTGTAG
Seq C2 exon
GTATTAATTGAAAAGGACTGGATTTCCTTTGGTCATAAGTTTAATCACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987-MTMR7:NM_004686:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(12.0=100)
A:
NA
C2:
PF066029=Myotub-related=FE(4.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)